Yurani Farfan
Mr. Trefz
Genetics
Wilson’s Disease
Wilson’s Disease?
• Wilson’s disease is a genetic
disorder in which the body
is receiving extra copper in
the body tissues. The body
receives copper from certain
foods like mushrooms,
turnip greens, spinach,
eggplant, cashews, summer
squash and most other with
enriched vitamins. In
Wilson disease, copper builds
up in the liver, brain, eyes,
and other organs. Too much
of high level copper can
cause life-threatening organ
damages and poisoning in
the body tissues.
What does Copper do to the
body?
• Copper plays a big part in
our metabolism and also
maintains the functions in
the enzymes in our bodies.
Copper has another job in
bone development, tissue
reconnection, hair and skin
development. The average
human needs about 75-100
milligrams of copper in
their diet. Basically the
size of penny.
Who can get Wilson Disease?
• Wilsons disease is a rare
and common disease
found in humans. People
who have Wilson’s
disease inherit two copies
of a ATP7B gene that are
abnormal from the parent
gene. About 1 to 40,000
people have Wilson’s
Disease. It affects men
and women. The start of
Wilson’s Disease is
around the ages 5 to 35.
But other studies showed
that it can happen at the
age of 2 and 72.
Symptoms Of Wilson’s Disease
•
•
•
•
•
•
•
•
•
•
•
Symptoms of this disease are…
Swelling of the Spleen
Yellowing in the skin and
whites in the eyes.
Fluid build up in the legs and
lower abdomen
You can bruise easily
Get tired really easily
Muscle stiffness
Problems with speaking,
swallowing and coordination
Low level of white blood cell
count
High level of amino acids,
protein, uric acids.
Mood swings
Exams & Tests
• When having a test for Wilson’s
disease, doctors will check for…
• Yellow in iris
• Limited movement in the eyes
• Physical examination of central
nervous system, coordination,
loss of thinking, stiffness in
muscles, and memory loss.
• Liver or spleen disorders
• Lab test will also look into
white blood cell count, copper,
and uric acid.
• Problems in the liver will be
tested for High AST & ALT , high
bilirbin , PT and PTT
• And Low Albumin
Diagnosis
Treatment
• Wilson’s Disease is a life long
disease. Therapy will have to
be in place. The therapy
removes excess copper in the
body before any poising in
the body occurs. Medication
is provided for Wilson’s
disease. Women who are
pregnant should take a less
amount of the medication.
The medication is dpenicillamine (Cuprimine)
and trientine hydrochloride
(Syprine). These both drugs
release the cooper in the
organs so they don’t build
up.
What to avoid!
• People who have
Wilson’s disease are on
a strict diet. They
cannot have a large
amount of copper. They
should avoid Chocolate,
Shellfish, dried fruit,
Mushrooms, and Nuts.
When drinking water
people with this
disease must have their
water checked out just
in case it has copper.
Biliography
•
•
•
•
•
http://www.whfoods.com/genpage.php?tname=nutrient&dbid=53
http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/#what
https://health.google.com/health/ref/Wilson's+disease
http://health.nytimes.com/health/guides/disease/wilsons-disease/overview.html
"ATP7B." Encyclopædia Britannica. 2009. Encyclopædia Britannica Online. 11 Nov. 2009
<http://www.britannica.com/EBchecked/topic/1525291/ATP7B>.